Further delineation of deletion 1p36 syndrome in 60 patients: A recognizable phenotype and common cause of developmental delay and mental retardation
Further delineation of deletion 1p36 syndrome in 60 patients: A recognizable phenotype and common cause of developmental delay and mental retardation
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DOI：
10.1542/peds.2007-0929
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发表时间：
2008-02-01
期刊：
影响因子：
8
通讯作者：
Carey, John C.
中科院分区：
文献类型：
--
作者：
Battaglia, Agatino;Hoyme, H. Eugene;Carey, John C.
目标.缺失1 p36综合征是一种最近描述的疾病，被认为是最常见的端粒下微缺失综合征（1/5000新生儿）。1p36.3缺失占特发性精神发育迟滞的0.5%至1.2%;因此，了解这种情况对于照顾此类患者的儿科医生很重要。尽管报告了100例病例，但对其自然史知之甚少。我们的目的是描述1 p36缺失的自然史，并开发完整和准确的信息，以回答家庭的问题，在临床设置。我们评估了60例1 p36缺失综合征患者（41例女性，19例男性）。所有人都接受了身体和神经评估，大多数人接受了心理评估。标准的细胞遗传学，荧光原位杂交的亚端粒区，或阵列比较基因组杂交用于诊断。其中14例采用标准细胞遗传学方法检测，46例采用端粒亚区荧光原位杂交或阵列比较基因组杂交方法检测。枕额周长为
OBJECTIVES. Deletion 1p36 syndrome is a recently delineated disorder, considered to be the most common subtelomeric microdeletion syndrome (1 in 5000 newborns). 1p36.3 deletions account for 0.5% to 1.2% of idiopathic mental retardation; thus, knowledge about the condition is important for pediatricians caring for such patients. Despite 100 reported cases, little is known about its natural history. Our aim was to delineate the natural history of deletion 1p36 and develop complete and accurate information with which to answer families' questions in the clinical setting.PATIENTS AND METHODS. We evaluated 60 patients with the 1p36 deletion syndrome (41 female, 19 male). All underwent physical and neurologic assessments, and most received a psychological evaluation. Standard cytogenetics, fluorescence in situ hybridization of the subtelomeric regions, or array comparative genomic hybridization were used for diagnosis.RESULTS. Fourteen cases were detected by standard cytogenetics, and 46 were detected by fluorescence in situ hybridization of the subtelomeric regions or array comparative genomic hybridization. Occipitofrontal circumference was at